Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2009 2009
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1698259
Disease: HCV coinfection
HCV coinfection 		0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0024809
Disease: Marijuana Abuse
Marijuana Abuse 		0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 < 0.001 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0520909
Disease: Postoperative Nausea and Vomiting
Postoperative Nausea and Vomiting 		0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0014743
Disease: Erythema Nodosum
Erythema Nodosum 		0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		0.010 < 0.001 1 2014 2014